Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J et al.
Korean Journal of Ophthalmology : Kjo, 2023
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
Mutation signatures of pediatric acute myeloid leukemia and normal blood progenitors associated with differential patient outcomes.
Brandsma AM et al.
Blood Cancer Discovery, 2021
34642666 (PubMed )
Supplement: bloodcandisc-2-484-s002.xlsx › ST1
Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis.
Osorio FG et al.
Cell Reports, 2018
30485801 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
Kabir F et al.
Molecular Vision, 2013
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